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Published July 29, 2019 | Version v2019-07-28
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monarch-initiative/mondo: August release

Authors/Creators

  • 1. Lawrence Berkeley National Laboratory
  • 2. ENS Paris-Saclay

Description

2019-07-28 release New Classes Obsoletions Renaming
  • MONDO:0001032 Mooren's ulcer --> Mooren ulcer
  • MONDO:0007253 cancer, familial, with 1N vitro Radioresistance --> cancer, familial, with in vitro Radioresistance
  • MONDO:0007431 dens 1N dente and palatal invaginations --> dens in dente and palatal invaginations
  • MONDO:0007643 gamma-A-globulin, defect 1N assembly of --> gamma-A-globulin, defect in assembly of
  • MONDO:0007913 low density lipoprotein, variation 1N molecular weight of --> low density lipoprotein, variation in molecular weight of
  • MONDO:0008088 neuropathy, with paraprotein 1N serum, cerebrospinal fluid and urine --> neuropathy, with paraprotein in serum, cerebrospinal fluid and urine
  • MONDO:0008326 pseudocholinesterase, increase 1N plasma level of --> pseudocholinesterase, increase in plasma level of
  • MONDO:0008790 anemia, nonspherocytic hemolytic, possibly due to defect 1N porphyrin metabolism --> anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism
  • MONDO:0009307 granulomatous disease with defect 1N neutrophil chemotaxis --> granulomatous disease with defect in neutrophil chemotaxis
  • MONDO:0009389 hyperlysinemia due to defect 1N lysine transport into mitochondria --> hyperlysinemia due to defect in lysine transport into mitochondria
  • MONDO:0009391 hypermetabolism due to defect 1N mitochondria --> hypermetabolism due to defect in mitochondria
  • MONDO:0009436 hypothalamic hamartomas --> congenital hypothalamic hamartoma syndrome
  • MONDO:0009457 immunoglobulin d level 1N plasma, low --> immunoglobulin d level in plasma, low
  • MONDO:0009607 brain demyelination due to methionine adenosyltransferase deficiency --> methionine adenosyltransferase deficiency
  • MONDO:0009638 mitochondrial myopathy with a defect 1N mitochondrial-protein transport --> mitochondrial myopathy with a defect in mitochondrial-protein transport
  • MONDO:0009776 SPGF1 --> spermatogenic failure 1
  • MONDO:0010276 radioulnar synostosis, radial ray abnormalities, and severe malformations 1N the male --> radioulnar synostosis, radial ray abnormalities, and severe malformations in the male
  • MONDO:0010381 Tn Polyagglutination syndrome --> Tn polyagglutination syndrome
  • MONDO:0010507 Xq25 duplication syndrome --> Xq25 microduplication syndrome
  • MONDO:0010962 palmoplantar keratoderma, nonepidermolytic --> diffuse nonepidermolytic palmoplantar keratoderma
  • MONDO:0010982 ichthyosis-mental retardation syndrome with large keratohyalin granules 1N the skin --> ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin
  • MONDO:0011111 horns 1N sheep --> horns in sheep
  • MONDO:0011141 folate level 1N erythrocytes --> folate level in erythrocytes
  • MONDO:0011310 long chain fatty acids, defect 1N transport of --> long chain fatty acids, defect in transport of
  • MONDO:0011581 dilated cardiomyopathy with woolly hair and keratoderma --> arrhythmogenic cardiomyopathy with woolly hair and keratoderma
  • MONDO:0013308 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia --> CBL-related disorder
  • MONDO:0014263 Verheij syndrome --> 8q24.3 microdeletion syndrome
  • MONDO:0014869 hydrops, lactic acidosis, and sideroblastic anemia --> hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
  • MONDO:0014975 spastic paraplegia 78, autosomal recessive --> autosomal recessive spastic paraplegia type 78
  • MONDO:0015006 epidermolysis bullosa simplex, generalized, with scarring and hair loss --> generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss
  • MONDO:0019183 rare genetic odontologic disease --> inherited odontologic disease
  • MONDO:0023204 Fukuda Miyanomae Nakata syndrome --> Fukuda-Miyanomae-Nakata syndrome
  • MONDO:0029132 liddle syndrome 3 --> Liddle syndrome 3
  • MONDO:0044304 hyperphenylalaninemia, mild, non-bh4-deficient --> hyperphenylalaninemia due to DNAJC12 deficiency

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Related works

Is supplement to
https://github.com/monarch-initiative/mondo/tree/v2019-07-28 (URL)